Xiaotun Ren
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View article: Pathogenic mechanisms and clinical insights into <i>B3GALNT2</i> -related alpha-dystroglycanopathies
Pathogenic mechanisms and clinical insights into <i>B3GALNT2</i> -related alpha-dystroglycanopathies Open
Background B3GALNT2 mutations cause α-dystroglycanopathy (α-DGP), a rare condition characterized by muscular dystrophy, brain malformations, and developmental delay. However, its pathogenic mechanisms remain poorly understood. To date, lim…
View article: Effectiveness and safety of perampanel for pediatric patients with epilepsy: A real‐world study from China
Effectiveness and safety of perampanel for pediatric patients with epilepsy: A real‐world study from China Open
Importance Perampanel (PER) is used less extensively in children than in adults. Currently, there is a lack of data from PER clinical studies with large sample sizes in Chinese children and adolescents with epilepsy, especially those with …
View article: Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China
Neurophenotype and genetic analysis of children with Aicardi‐Goutières syndrome in China Open
Importance Aicardi–Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited. Objective To summarize the neurologic phenotyp…
View article: Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T&gt;C identified as a hotspot mutation in Chinese patients with a stable natural history
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history Open
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations vary from neonatal lethality to childhood-onset spastic paraparesis, yet the ethnic heterogeneity and natural history…
View article: Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report
Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report Open
Background Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder with heterogeneous phenotype, including hypotonia, movement disorders, autonomic dysfunction, and developmental delay. He…
View article: Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients
Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients Open
Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by a broad spectrum of neurodevelopmental disorders. It is caused by pathogenic CHD2 variants. While only a few pathogenic CHD2 variants have …
View article: Chinese patients with p.Arg756 mutations of <i>ATP1A3</i>: Clinical manifestations, treatment, and follow‐up
Chinese patients with p.Arg756 mutations of <i>ATP1A3</i>: Clinical manifestations, treatment, and follow‐up Open
Importance The phenotypes of ATP1A3 gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever‐induced paroxysmal weakness and encephalopathy (FIPWE) are considered non‐classical phenotypes caused by p.Arg756 mut…
View article: Autoimmune cerebellar ataxia associated with anti-Purkinje cells antibodies: the next frontier of neuroimmunology
Autoimmune cerebellar ataxia associated with anti-Purkinje cells antibodies: the next frontier of neuroimmunology Open
Autoimmune cerebellar ataxia (ACA) is an important cause of sporadic cerebellar ataxia. Technological innovation promotes the rapid development of cerebellar autoimmunity researches in recent years. More and more new antibodies have been p…
View article: Immunotherapies for Anti-N-M-methyl-D-aspartate Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China
Immunotherapies for Anti-N-M-methyl-D-aspartate Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China Open
Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered for more than a decade, but the establishment of standardized immunotherapy protocol for pediatric patients still needs more clinical evidence. Methods…
View article: Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants
Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants Open
Background: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a rare autosomal recessive cerebral microangiopathy. Recently, biallelic variants in a non-protein-coding gene SNORD118 have been discovered to cause LCC. Case…
View article: Bilateral papilledema caused by chronic infantile neurological cutaneous and articular syndrome in a child with a novel (p. D305N) mutation in NLRP3 gene: a case report
Bilateral papilledema caused by chronic infantile neurological cutaneous and articular syndrome in a child with a novel (p. D305N) mutation in NLRP3 gene: a case report Open
The rare disease of chronic infantile neurological cutaneous and articular (CINCA) syndrome, is caused by the over-secretion of interleukin (IL)-1β due to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often invol…
View article: Case Report: Autoimmune Encephalitis Associated With Anti-glutamic Acid Decarboxylase Antibodies: A Pediatric Case Series
Case Report: Autoimmune Encephalitis Associated With Anti-glutamic Acid Decarboxylase Antibodies: A Pediatric Case Series Open
Background: Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients, including stiff person syndrome, cerebellar ataxia, refractory epilepsy, and limbic and extralimbic e…
View article: Immunotherapies for Anti-NMDA Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China
Immunotherapies for Anti-NMDA Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China Open
BackgroundAnti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered and termed more than a decade, but the establishment of standardized immunotherapy protocol for pediatric patients still needs more clinical evidence. To…
View article: [Clinical effect of tacrolimus in the treatment of myasthenia gravis in children].
[Clinical effect of tacrolimus in the treatment of myasthenia gravis in children]. Open
Tacrolimus appears to be effective and safe in the treatment of children with MG and is thus an option for immunosuppressive therapy. CYP3A5 genotyping has a certain guiding significance for determining the dosage of tacrolimus.
View article: Study of B Cell Repertoire in Patients With Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Study of B Cell Repertoire in Patients With Anti-N-Methyl-D-Aspartate Receptor Encephalitis Open
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common antibody-mediated encephalitis. There are several studies on B cell repertoire of anti-NMDAR encephalitis in Caucasians. Here, the cerebrospinal fluid (CSF) samples…
View article: Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis Open
Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activat…